Incidental Mutation 'RF032:Supt20'
| ID |
604398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Supt20
|
| Ensembl Gene |
ENSMUSG00000027751 |
| Gene Name |
suppressor of Ty 20 |
| Synonyms |
Fam48a, p38IP, D3Ertd300e, p38 interacting protein |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
RF032 (G1)
|
| Quality Score |
217.474 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
54692807-54728766 bp(+) (GRCm38) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
GCAGCA to GCAGCACCAGCA
at 54727666 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000029316]
[ENSMUST00000153224]
[ENSMUST00000154787]
[ENSMUST00000197502]
[ENSMUST00000199674]
[ENSMUST00000200439]
[ENSMUST00000200441]
|
| AlphaFold |
Q7TT00 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029315
|
| SMART Domains |
Protein: ENSMUSP00000029315
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
201 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029316
|
| SMART Domains |
Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
166 |
2.3e-29 |
PFAM |
|
Pfam:RNase_PH_C
|
191 |
258 |
8.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153224
|
| SMART Domains |
Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
130 |
2e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154787
|
| SMART Domains |
Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
19 |
106 |
5.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197502
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
62 |
227 |
1.9e-43 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
680 |
N/A |
INTRINSIC |
|
coiled coil region
|
722 |
751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199674
|
| SMART Domains |
Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
3.3e-39 |
PFAM |
|
low complexity region
|
424 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200439
|
| SMART Domains |
Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
2.7e-42 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200441
|
| SMART Domains |
Protein: ENSMUSP00000143231
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
171 |
N/A |
INTRINSIC |
|
coiled coil region
|
213 |
242 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: The incompletely penetrant homozygous phenotype of a splice-site mutation may include retinal epithelium expansion over the dorsal half of the eye, exencephaly, spina bifida, gastrulation defects and/or aberrant somite and mesoderm development. A few mutants survive postnatally and appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
TACCT |
TACCTGACCT |
17: 24,287,727 |
|
probably null |
Het |
| Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,905,102 |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGTCG |
17: 4,995,588 |
|
probably benign |
Het |
| Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,512,930 |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,620,063 |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCCGTGG |
19: 47,141,283 |
|
probably null |
Het |
| Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,669,515 |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 87,040,413 |
|
probably benign |
Het |
| Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,767,182 |
|
probably benign |
Het |
| Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,874,772 |
|
probably benign |
Het |
| Enah |
TGGCGGTGG |
TG |
1: 181,921,929 |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,511,778 |
|
probably benign |
Het |
| H2-T10 |
TTTCCCACTGTA |
T |
17: 36,120,294 |
|
probably null |
Het |
| Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,735,157 |
|
probably benign |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 68,226,179 |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,042,258 |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,640,489 |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,275,981 |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,275,985 |
|
probably benign |
Het |
| Med12l |
GCA |
GCACCA |
3: 59,275,989 |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,419,711 |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,829,936 |
|
probably null |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,627,587 |
|
probably benign |
Het |
| Olfr418 |
GTGACATC |
G |
1: 173,270,709 |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,792,972 |
|
probably benign |
Het |
| Pik3c2g |
G |
GGAGA |
6: 139,635,658 |
|
probably null |
Het |
| Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,657,805 |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,608,939 |
|
probably benign |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,707,968 |
|
probably null |
Het |
| Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 125,154,210 |
|
probably benign |
Het |
| Smpx |
CCCCCCA |
C |
X: 157,720,923 |
|
probably benign |
Het |
| Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,616,063 |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,616,074 |
|
probably benign |
Het |
| Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,967,036 |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 114,289,329 |
L320F |
probably damaging |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 108,956,092 |
|
probably benign |
Het |
|
| Other mutations in Supt20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Supt20
|
APN |
3 |
54,715,169 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01781:Supt20
|
APN |
3 |
54,695,205 (GRCm38) |
start codon destroyed |
probably null |
0.47 |
|
IGL02510:Supt20
|
APN |
3 |
54,715,524 (GRCm38) |
intron |
probably benign |
|
|
IGL02656:Supt20
|
APN |
3 |
54,708,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02958:Supt20
|
APN |
3 |
54,713,723 (GRCm38) |
intron |
probably benign |
|
|
IGL03036:Supt20
|
APN |
3 |
54,709,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL03128:Supt20
|
APN |
3 |
54,708,287 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL03164:Supt20
|
APN |
3 |
54,713,188 (GRCm38) |
missense |
probably benign |
0.01 |
|
FR4304:Supt20
|
UTSW |
3 |
54,727,664 (GRCm38) |
nonsense |
probably null |
|
|
FR4304:Supt20
|
UTSW |
3 |
54,727,647 (GRCm38) |
small insertion |
probably benign |
|
|
FR4304:Supt20
|
UTSW |
3 |
54,727,662 (GRCm38) |
small insertion |
probably benign |
|
|
FR4449:Supt20
|
UTSW |
3 |
54,727,649 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Supt20
|
UTSW |
3 |
54,727,673 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Supt20
|
UTSW |
3 |
54,727,664 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Supt20
|
UTSW |
3 |
54,727,657 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:Supt20
|
UTSW |
3 |
54,727,671 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:Supt20
|
UTSW |
3 |
54,727,655 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:Supt20
|
UTSW |
3 |
54,727,651 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Supt20
|
UTSW |
3 |
54,727,661 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Supt20
|
UTSW |
3 |
54,727,657 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Supt20
|
UTSW |
3 |
54,727,658 (GRCm38) |
small insertion |
probably benign |
|
|
R0383:Supt20
|
UTSW |
3 |
54,703,149 (GRCm38) |
nonsense |
probably null |
|
|
R0675:Supt20
|
UTSW |
3 |
54,706,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0744:Supt20
|
UTSW |
3 |
54,714,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0968:Supt20
|
UTSW |
3 |
54,708,400 (GRCm38) |
intron |
probably benign |
|
|
R1075:Supt20
|
UTSW |
3 |
54,706,941 (GRCm38) |
nonsense |
probably null |
|
|
R1689:Supt20
|
UTSW |
3 |
54,712,162 (GRCm38) |
nonsense |
probably null |
|
|
R1772:Supt20
|
UTSW |
3 |
54,710,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1779:Supt20
|
UTSW |
3 |
54,714,743 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1829:Supt20
|
UTSW |
3 |
54,727,658 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R3236:Supt20
|
UTSW |
3 |
54,709,080 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3237:Supt20
|
UTSW |
3 |
54,709,080 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4989:Supt20
|
UTSW |
3 |
54,695,134 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5180:Supt20
|
UTSW |
3 |
54,709,085 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5188:Supt20
|
UTSW |
3 |
54,710,428 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5423:Supt20
|
UTSW |
3 |
54,709,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5627:Supt20
|
UTSW |
3 |
54,713,190 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5888:Supt20
|
UTSW |
3 |
54,712,207 (GRCm38) |
missense |
probably benign |
|
|
R5995:Supt20
|
UTSW |
3 |
54,709,053 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6316:Supt20
|
UTSW |
3 |
54,727,648 (GRCm38) |
small insertion |
probably benign |
|
|
R6623:Supt20
|
UTSW |
3 |
54,718,294 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6713:Supt20
|
UTSW |
3 |
54,698,601 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6874:Supt20
|
UTSW |
3 |
54,727,754 (GRCm38) |
splice site |
probably null |
|
|
R6988:Supt20
|
UTSW |
3 |
54,698,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7149:Supt20
|
UTSW |
3 |
54,728,411 (GRCm38) |
missense |
unknown |
|
|
R7592:Supt20
|
UTSW |
3 |
54,707,122 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7940:Supt20
|
UTSW |
3 |
54,713,199 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8480:Supt20
|
UTSW |
3 |
54,707,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8550:Supt20
|
UTSW |
3 |
54,715,642 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8935:Supt20
|
UTSW |
3 |
54,727,567 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9412:Supt20
|
UTSW |
3 |
54,727,648 (GRCm38) |
small deletion |
probably benign |
|
|
R9414:Supt20
|
UTSW |
3 |
54,703,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9694:Supt20
|
UTSW |
3 |
54,715,594 (GRCm38) |
missense |
probably benign |
0.02 |
|
RF001:Supt20
|
UTSW |
3 |
54,727,662 (GRCm38) |
small insertion |
probably benign |
|
|
RF009:Supt20
|
UTSW |
3 |
54,727,662 (GRCm38) |
small insertion |
probably benign |
|
|
RF010:Supt20
|
UTSW |
3 |
54,727,662 (GRCm38) |
small insertion |
probably benign |
|
|
RF014:Supt20
|
UTSW |
3 |
54,727,665 (GRCm38) |
small insertion |
probably benign |
|
|
RF026:Supt20
|
UTSW |
3 |
54,727,647 (GRCm38) |
small insertion |
probably benign |
|
|
RF026:Supt20
|
UTSW |
3 |
54,727,670 (GRCm38) |
nonsense |
probably null |
|
|
RF038:Supt20
|
UTSW |
3 |
54,727,647 (GRCm38) |
small insertion |
probably benign |
|
|
RF045:Supt20
|
UTSW |
3 |
54,727,666 (GRCm38) |
small insertion |
probably benign |
|
|
RF052:Supt20
|
UTSW |
3 |
54,727,665 (GRCm38) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTAGAATGTCCAGGAATCAG -3'
(R):5'- ACTGGCTTTTAACATGTCAGACTC -3'
Sequencing Primer
(F):5'- TGTCCAGGAATCAGTGATATACCC -3'
(R):5'- TCTAAATAAAGTTACTGAGCAACTGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation